Canonical Allele Identifier: CA397083551
Gene: PIEZO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2921140
ClinVar RCV Id: RCV003740579
dbSNP Id: rs1270585351
gnomAD v2: 16-88786111-G-C
gnomAD v3: 16-88719703-G-C
gnomAD v4: 16-88719703-G-C
MyVariant Identifiers: chr16:g.88786111G>C (hg19) chr16:g.88719703G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88719703G>C , CM000678.2:g.88719703G>C GRCh38
NC_000016.9:g.88786111G>C , CM000678.1:g.88786111G>C GRCh37
NC_000016.8:g.87313612G>C NCBI36
NG_042229.1:g.70518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301015.14:c.6342C>G MANE Select ENSP00000301015.9:p.Phe2114Leu
ENST00000466823.3:c.368C>G
ENST00000301015.13:c.6342C>G ENSP00000301015.9:p.Phe2114Leu
ENST00000419505.5:c.108C>G ENSP00000406358.1:p.Phe36Leu
ENST00000466823.2:c.368C>G
ENST00000495568.7:n.583C>G
ENST00000497793.2:n.497C>G
NM_001142864.2:c.6342C>G NP_001136336.2:p.Phe2114Leu
NM_001142864.3:c.6342C>G NP_001136336.2:p.Phe2114Leu
NM_001142864.4:c.6342C>G MANE Select NP_001136336.2:p.Phe2114Leu
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